Variant report

Variant	rs73978242
Chromosome Location	chr2:189360283-189360284
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189357879..189360494-chr2:189362422..189365223,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10931348	0.83[EUR][1000 genomes]
rs4073660	0.87[EUR][1000 genomes]
rs4494698	0.86[EUR][1000 genomes]
rs4563189	0.87[EUR][1000 genomes]
rs4625863	0.87[EUR][1000 genomes]
rs4666761	0.87[EUR][1000 genomes]
rs57923102	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7425417	0.81[AFR][1000 genomes]
rs7597229	0.87[EUR][1000 genomes]
rs9288155	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189334600-189367600	Weak transcription	Fetal Lung	lung
3	chr2:189338600-189360600	Weak transcription	Ovary	ovary
4	chr2:189344000-189370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:189344200-189390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:189353000-189366400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:189355800-189382400	Weak transcription	Gastric	stomach
8	chr2:189356000-189370800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:189356400-189370000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:189356400-189371200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:189356400-189373600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:189356800-189362600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:189356800-189371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:189357000-189370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:189357800-189371000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:189358800-189362400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:189358800-189369800	Weak transcription	Placenta	Placenta
18	chr2:189359000-189362400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:189359200-189382200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:189359600-189361800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:189359600-189363000	Enhancers	NHDF-Ad	bronchial
22	chr2:189359800-189360400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:189359800-189362400	Enhancers	Hela-S3	cervix
24	chr2:189360000-189360600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:189360000-189361400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:189360000-189362800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:189360200-189360600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr2:189360200-189361400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:189360200-189361400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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